RESUMEN
OBJECTIVE@#To explore the cause of inconsistent genotypes for an α-thalassemia carrier by using two commercial genotyping kits.@*METHODS@#GAP-PCR and PCR-reverse dot blotting (PCR-RDB) were employed to determine the genotype of the carrier, while Sanger sequencing was used to verify the results.@*RESULTS@#Sequencing analysis demonstrated that the subject has carried a α1 globin gene with a 3.7 kb heterozygous deletion. In addition, two novel mutations, IVS-II-55(T>G) and IVS-II-119(G>TCGGCCC), were found in intron 2 of α2 globin gene.@*CONCLUSION@#The two mutations located in the binding regions of PCR primers have caused failure of PCR amplification and misreading of the genotype. Combination of clinical and hematological phenotypes is indispensible to infer the genotype of carriers for accurate diagnosis.
Asunto(s)
Humanos , Genotipo , Heterocigoto , Mutación , Talasemia alfa , GenéticaRESUMEN
This paper introduced the development of medical specialists alliance in Zhejiang University. With Jinhua Central Hospital as an example,merits and setbacks of the 3-level trusteeship model in practice were discussed,with improvement recommendations raised for progress of the hierarchical medical system.
RESUMEN
Thanks to the policies of resources to strengthen grassroots ,and innovative resource placement in Zhejiang province and the help of Zhejiang University School of Medicine ,Shaoxing regional medical center has achieved significant improvement in its medical capabilities .The cooperation features the following :active promotion of new medical ideas and key technologies ;overall enhancement of scientific and technological innovation ;talent training to advance disciplinary development ;and joint efforts to train postgraduates .The momentum ,however ,can only be maintained ,unless such problems as the means of resources placement ,disciplines alignment ,and medical workers development can be well addressed .